Kaposiform Hemangioendothelioma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KH MCID: KPS002 MIFTS: 39	Kaposiform Hemangioendothelioma (KH) Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

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Aliases & Classifications for Kaposiform Hemangioendothelioma

MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

IMPROVED

Name: Kaposiform Hemangioendothelioma ¹⁹ ⁵⁸ ⁷⁵ ²⁸ ⁵ ⁷¹ ⁷⁵

Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma ¹⁹

Kaposiform Hemangio-Endothelioma ¹⁹

Khe ¹⁹

Kh ¹⁹

Characteristics:

Age Of Onset:

All ages ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Cancer diseases
Anatomical: Cardiovascular diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Malignant neoplasms of mesothelial and soft tissue

Malignant neoplasm of other connective and soft tissue

Malignant neoplasm: Connective and soft tissue, unspecified

Orphanet: ⁵⁸

Rare circulatory system diseases

Developmental anomalies during embryogenesis

External Ids:

MESH via Orphanet ⁴⁴ C537007

ICD10 via Orphanet ³² C49.9

UMLS via Orphanet ⁷² C1367420

Orphanet ⁵⁸ ORPHA2122

UMLS ⁷¹ C1367420

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Summaries for Kaposiform Hemangioendothelioma

GARD: ¹⁹ A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.

MalaCards based summary: Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioma-thrombocytopenia syndrome and angioma, tufted. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14). The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include endothelial, lymph node and bone.

Orphanet: ⁵⁸ A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.

Wikipedia: ⁷⁵ A vascular tumor is a tumor of vascular origin; a soft tissue growth that can be either benign or... more...

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Related Diseases for Kaposiform Hemangioendothelioma

Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)

#	Related Disease	Score
1	hemangioma-thrombocytopenia syndrome	11.5
2	angioma, tufted	11.4
3	hemangioendothelioma	11.2
4	hemangioma	10.8
5	kaposi sarcoma	10.8
6	rare vascular tumor	10.7
7	capillary hemangioma	10.7
8	vascular cancer	10.7
9	thrombocytopenia	10.7
10	lymphangiomatosis	10.6
11	lymphangioma	10.4
12	disseminated intravascular coagulation	10.4
13	rare tumor	10.4
14	human herpesvirus 8	10.4
15	hereditary lymphedema i	10.4
16	rare lymphatic malformation	10.4
17	factor viii deficiency	10.3
18	cholestasis	10.3
19	obstructive jaundice	10.3
20	intestinal obstruction	10.3
21	scoliosis	10.3
22	spindle cell hemangioma	10.3
23	hemolytic anemia	10.3
24	pyogenic granuloma	10.3
25	congenital hemangioma	10.3
26	hydrops fetalis, nonimmune	10.2
27	thrombotic thrombocytopenic purpura, hereditary	10.2
28	short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	10.2
29	rapidly involuting congenital hemangioma	10.2
30	respiratory failure	10.2
31	pneumocystosis	10.2
32	purpura	10.2
33	non-involuting congenital hemangioma	10.2
34	coloboma of optic nerve	10.0
35	hypercalcemia, infantile, 1	10.0
36	intussusception	10.0
37	laryngomalacia	10.0
38	lymphatic malformation 1	10.0
39	neurofibromatosis, type i	10.0
40	tuberous sclerosis 1	10.0
41	volvulus of midgut	10.0
42	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	10.0
43	ascites, chylous	10.0
44	hemangiopericytoma, malignant	10.0
45	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	10.0
46	immune deficiency disease	10.0
47	neurodegeneration with brain iron accumulation 2a	10.0
48	pancreatic cancer	10.0
49	ataxia with vitamin e deficiency	10.0
50	neurofibromatosis-noonan syndrome	10.0

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:

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Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

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Drugs & Therapeutics for Kaposiform Hemangioendothelioma

Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Miconazole

Approved, Investigational, Vet_approved

Phase 4

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 4

53123-88-9

5284616 6436030

Clotrimazole

Approved, Vet_approved

Phase 4

23593-75-1

2812

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 4

1401-55-4

16129878 16129778

Tacrolimus

Approved, Investigational

Phase 4

104987-11-3

6473866 445643

Anti-Infective Agents

Phase 4

Antifungal Agents

Phase 4

Immunosuppressive Agents

Phase 4

Antibiotics, Antitubercular

Phase 4

Anti-Bacterial Agents

Phase 4

Immunologic Factors

Phase 4

Calcineurin Inhibitors

Phase 4

Pharmaceutical Solutions

Phase 4

Prednisolone phosphate

Approved, Vet_approved

Phase 2

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 2

52-21-1

Prednisolone

Approved, Vet_approved

Phase 2

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 2

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 2

83-43-2

4159 6741

Vincristine

Approved, Investigational

Phase 2

2068-78-2, 57-22-7

5978

Prednisolone hemisuccinate

Experimental

Phase 2

2920-86-7

4897

Methylprednisolone Acetate

Phase 2

584547

Hormones

Phase 2

glucocorticoids

Phase 2

Antineoplastic Agents, Hormonal

Phase 2

Hormone Antagonists

Phase 2

Anti-Inflammatory Agents

Phase 2

Tubulin Modulators

Phase 2

Antimitotic Agents

Phase 2

Prednisone

Approved, Vet_approved

Phase 1

53-03-2

5865

Vaccines

Antibodies

Immunoglobulins, Intravenous

Immunoglobulins

Mitogens

Endothelial Growth Factors

Interventional clinical trials:

(show all 12)

#	Name	Status	NCT ID	Phase	Drugs
1	Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study	Recruiting	NCT04056962	Phase 4	Tacrolimus ointment
2	Guided Discontinuation Versus Maintenance Treatment of Sirolimus in Pediatric Patients With Kaposiform Hemangioendothelioma: a Randomized Controlled Trial	Recruiting	NCT04448873	Phase 4	Sirolimus
3	Safety and Efficacy of Low-dose Sirolimus to Kaposiform Hemangioendothelioma:A Prospective, Randomized Open Trial	Recruiting	NCT04077515	Phase 4	Sirolimus(0.8mg/m2);Sirolimus(0.7mg/m2)
4	Percutaneous Administration of Sirolimus in the Treatment of Superficial Complicated Vascular Anomalies: a Randomized Controlled Trial	Recruiting	NCT04921722	Phase 4	Percutaneous sirolimus;Oral sirolimus
5	Sirolimus Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome	Completed	NCT03188068	Phase 2	Sirolimus;Prednisolone
6	Efficacy and Safety of Different Concentrations of Sirolimus in the Treatment of Kaposiform Hemangioendothelioma.	Recruiting	NCT04775173	Phase 2	Sirolimus
7	Different Doses of Sirolimus for the Maintenance Treatment of Kaposiform Hemangioendothelioma: a Randomized Controlled Trial	Recruiting	NCT05324384	Phase 2	Sirolimus
8	A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE).	Terminated	NCT02110069	Phase 2	Vincristine;Sirolimus
9	A Clinical Study on the Treatment of Kaposiform Hemangioendothelioma (KHE) With Kasabach-Merritt Phenomenon (KMP) by Hormone Shock and Sirolimus Maintenance	Not yet recruiting	NCT04409691	Phase 1	prednison and Sirolimus;prednison
10	The Effect of Sirolimus on Time-sequentially Scheduled Immunizations During the Treatment of Kaposiform Hemangioendothelioma: a Case-control Study	Recruiting	NCT05351216
11	Identification of Biomarkers for Patients With Vascular Anomalies	Recruiting	NCT03001180
12	Lymphatic Anomalies Registry for the Assessment of Outcome Data	Recruiting	NCT02399527

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

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Genetic Tests for Kaposiform Hemangioendothelioma

Genetic tests related to Kaposiform Hemangioendothelioma:

#	Genetic test	Affiliating Genes
1	Kaposiform Hemangioendothelioma ²⁸

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Anatomical Context for Kaposiform Hemangioendothelioma

Organs/tissues related to Kaposiform Hemangioendothelioma:

MalaCards : Endothelial, Lymph Node, Bone, Tongue, Spleen, Skin, Tonsil

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Publications for Kaposiform Hemangioendothelioma

Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 363)

#	Title	Authors	PMID	Year
1	GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. ⁵	Lim YH...Choate KA	27476652	2016
2	Digital subtraction angiography and trans arterial embolization in preventing massive hemorrhage of Kaposiform hemangioendothelioma: A case report. ⁶²	Sidipratomo P...Widowati CP	36188091	2022
3	Multifocal Kaposiform Hemangioendothelioma in a Newborn With Confirmatory Histopathology. ⁶²	Cohen OG...Acord MR	36193691	2022
4	ALL-481 Infant Cancer in Armenia: Nationwide Survey for the Period of 1995-2021. ⁶²	Melnichenko I...Sargsyan L	36163751	2022
5	Bone kaposiform hemangioendothelioma: A rare entity dramatically improved by sirolimus. ⁶²	Boccara O...Lorrot M	35138010	2022
6	Aggressive vascular tumor mimicking posttraumatic hematoma: A case report of kaposiform hemangioendothelioma on the nose. ⁶²	van Zijl FVWJ...Datema FR	35865722	2022
7	Management of pancreatic kaposiform hemangioendothelioma with sirolimus in a pediatric patient: a case report and literature review. ⁶²	Liang Z...Zeng J	36072541	2022
8	How we approach coagulopathy with vascular anomalies. ⁶²	Mack JM...Crary SE	36070211	2022
9	Giant retroperitoneal Kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon: A case report. ⁶²	Wu D...Zhou S	35961905	2022
10	Rapamycin induces autophagy and apoptosis in Kaposiform hemangioendothelioma primary cells in vitro. ⁶²	Wang Z...Li K	35428493	2022
11	Congenital Infantile Fibrosarcoma Involving Pelvic Wall and Thigh Soft Tissues and Placenta, Presenting with Coagulopathy. ⁶²	Naumchik B...Luquette M	35834223	2022
12	Clinical features and management of kaposiform hemangioendothelioma and tufted angioma: Similarities and differences. ⁶²	Zhou J...Ji Y	34273457	2022
13	MRI-based radiomics in distinguishing Kaposiform hemangioendothelioma (KHE) and fibro-adipose vascular anomaly (FAVA) in extremities: A preliminary retrospective study. ⁶²	Ding Y...Gong Y	35418319	2022
14	TEMPORARY REMOVAL: PO-51: Kaposiform hemangioendothelioma is associated with platelet functional abnormalities that persist in patients even after complete blood cell count recovery. ⁶²	Tesakov IP...Sveshnikova AN	35643694	2022
15	18F-FDG PET/CT Findings in a Woman With Kaposiform Hemangioendothelioma in the Sacrum. ⁶²	Xu H...Duan J	35020652	2022
16	Cellular variant of kaposiform lymphangiomatosis: a report of three cases, expanding the morphologic and molecular genetic spectrum of this rare entity. ⁶²	Allen-Rhoades W...Folpe AL	35202617	2022
17	A rare case of Kasabach Merritt Syndrome presenting with an infantile hemangioma: A case report. ⁶²	Alghobaishi A...Al Shareef F	35495392	2022
18	Sirolimus plus prednisolone vs sirolimus monotherapy for kaposiform hemangioendothelioma: a randomized clinical trial. ⁶²	Ji Y...Zhang Y	35030255	2022
19	[Clinicopathological features of congenital hemangioma: a study of 40 cases]. ⁶²	Liang D...Zhu H	35249282	2022
20	Kaposiform Hemangioendothelioma of Internal Auditory Canal Presenting in 4-Week-Old Newborn. ⁶²	Colasacco CJ...Tobias M	35024793	2022
21	Kaposiform hemangioendothelioma with fatal income: Kasabach-Merritt phenomenon and hypercalcemia. ⁶²	Massara B...Hamida T	35198208	2022
22	Neonatal Intestinal Obstruction Due to Kaposiform Hemangioendothelioma of the Jejunum. ⁶²	Maddileti V...Kuruvilla S	35187187	2022
23	Kaposiform hemangioendothelioma of the bone in children and adolescents. ⁶²	Kuo C...Mascarenhas L	34606171	2022
24	Stability Testing of Sirolimus in Medium-Chain Triglyceride Oil Using High-Performance Liquid Chromatography. ⁶²	Brown M...Felton L	35558349	2022
25	Case report: A rare case of retroperitoneal kaposiform hemangioendothelioma with spinal involvement without abnormal platelet count in 18F-FDG PET/CT. ⁶²	Qiu Y...Kang L	36035391	2022
26	Kaposiform hemangioendothelioma in an unusual site: A report of two cases in children. ⁶²	Bhattacharya S...Bhattacharyya A	35074987	2022
27	Indications and Limitations of Sirolimus in the Treatment of Vascular Anomalies-Insights From a Retrospective Case Series. ⁶²	Karastaneva A...Benesch M	35676905	2022
28	Case report: Experience of a rare case of rebound of the Kasabach-Merritt phenomenon during sirolimus treatment in kaposiform hemangioendothelioma. ⁶²	Wang L...Guo L	35990005	2022
29	Comprehensive Therapy for Infant Vascular Tumor Associated With Kasabach-Merritt Phenomenon-Single-Center Primary Experience. ⁶²	Sun X...Ouyang T	35813386	2022
30	Case Report: Congenital Intracranial Kaposiform Hemangioendothelioma Treated With Surgical Resection. ⁶²	Cai Y...Ge M	35433800	2022
31	Comparison of Effectiveness of Two Different Doses of Propranolol on Kaposiform Hemangioendothelioma. ⁶²	Wei L...Ma L	35419320	2022
32	Health-Related Quality of Life in Children With Kaposiform Hemangioendothelioma. ⁶²	Dai S...Ji Y	35281237	2022
33	A case of sirolimus treatment of kaposiform hemangioendothelioma in the neck. ⁶²	Kuwabara Y...Ohnishi H	35289458	2022
34	Primary Kaposiform Hemangioendothelioma of the Humerus: A Case Report. ⁶²	Ali Z...Jameel G	35178317	2022
35	Splenic kaposiform hemangioendothelioma presenting as insidious consumptive coagulopathy. ⁶²	Goldenberg M...Nolfi-Donegan D	34622468	2021
36	Analysis of angiographic characteristics of kaposiform hemangioendothelioma and investigation of the value of transcatheter arterial embolization therapy. ⁶²	Tan X...Zhou Z	35070833	2021
37	Malignant pancreatic tumor other than solid pseudopapillary tumor in pediatric patients: A single-center experience. ⁶²	Kim D...Kim HY	34918645	2021
38	Kaposiform Hemangioendothelioma of the Oral Cavity: A Rare Tumor with an Unusual Location. ⁶²	Morais TML...de Aquino SN	33715098	2021
39	A prospective multicenter study of sirolimus for complicated vascular anomalies. ⁶²	Ji Y...Zhang Y	34082006	2021
40	Kaposiform Hemangioendothelioma with Kasabach-Merritt Phenomenon. ⁶²	Pati S...Datta S	34106442	2021
41	Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum. ⁶²	Carli D...Mussa A	34402524	2021
42	Cutaneous Vascular Neoplasms of Uncertain Biological Behavior. ⁶²	McCollum KJ...Al-Rohil RN	34827153	2021
43	Kaposiform hemangioendothelioma of leg: An unusual presentation. ⁶²	Barwad AW...Mridha AR	34975106	2021
44	Management of Refractory Mandibular Kaposiform Hemangioendothelioma with Sirolimus: A Case Report and Review of the Literature. ⁶²	Rikhotso RE...Alharbi AA	34153244	2021
45	Antiproliferative therapy with sirolimus and propranolol for congenital vascular anomalies in newborns (Case reports). ⁶²	Cirstoveanu C...Spataru RI	34504551	2021
46	Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. ⁶²	Rossler J...Kapp FG	33580918	2021
47	Sirolimus for the treatment of kaposiform hemangioendothelioma: In a trough level-dependent way. ⁶²	Shan Y...Gu S	33932303	2021
48	Large abdominal purpura of neonatal retroperitoneal kaposiform hemangioendothelioma. ⁶²	Takemura R...Wada Y	34429992	2021
49	Overexpression Prox1 in HemECs resembles Kaposiform hemangioendothelioma and cytotoxicity of sirolimus in vitro. ⁶²	Wang J...Li K	33865602	2021
50	[Clinical features of Kasabach-Merritt syndrome: an analysis of 16 neonates]. ⁶²	Wang YH...Zuo W	34266526	2021

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Genes for Kaposiform Hemangioendothelioma

Genes related to Kaposiform Hemangioendothelioma (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GNA14	G Protein Subunit Alpha 14	Protein Coding	375	Causative somatic mutation ⁵⁸ Likely pathogenic ⁵	27476652

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Variations for Kaposiform Hemangioendothelioma

ClinVar genetic disease variations for Kaposiform Hemangioendothelioma:

IMPROVED

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GNA14	NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)	SNV	Likely Pathogenic	548667	rs1554685903	GRCh37: 9:80043932-80043932 GRCh38: 9:77429016-77429016

Cosmic variations for Kaposiform Hemangioendothelioma:

⁸ (show top 50) (show all 1353)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM89629521	SF3B1	soft tissue,blood vessel,other,benign	c.2014G>T	p.A672S	2:197402619-197402619	2
2	COSM87508264	NCOR1	soft tissue,blood vessel,other,benign	c.3838G>T	p.G1280W	17:16072202-16072202	2
3	COSM101155459	NCOR1	soft tissue,blood vessel,other,benign	c.3886G>T	p.G1296W	17:16072202-16072202	2
4	COSM101210927	NCOR1	soft tissue,blood vessel,other,benign	c.3559G>T	p.G1187W	17:16072202-16072202	2
5	COSM144457442	MSH6	soft tissue,blood vessel,other,benign	c.2309G>A	p.G770D	2:47803462-47803462	2
6	COSM131472690	MSH6	soft tissue,blood vessel,other,benign	c.2309G>A	p.G770D	2:47803462-47803462	2
7	COSM85779643	MSH6	soft tissue,blood vessel,other,benign	c.3215G>A	p.G1072D	2:47803462-47803462	2
8	COSM144639336	MSH6	soft tissue,blood vessel,other,benign	c.119G>A	p.G40D	2:47803462-47803462	2
9	COSM132100831	MSH6	soft tissue,blood vessel,other,benign	c.2825G>A	p.G942D	2:47803462-47803462	2
10	COSM85400395	MAP2K2	soft tissue,blood vessel,other,benign	c.979A>G	p.N327D	19:4097284-4097284	2
11	COSM101413162	MAP2K2	soft tissue,blood vessel,other,benign	c.688A>G	p.N230D	19:4097284-4097284	2
12	COSM106234905	FBXO11	soft tissue,blood vessel,other,benign	c.169+4733C>T	p.?	2:47803462-47803462	2
13	COSM94290791	XIAP	soft tissue,blood vessel,angiosarcoma,NS	c.73G>C	p.E25Q	23:123885735-123885735	1
14	COSM92181036	XIAP	soft tissue,blood vessel,angiosarcoma,NS	c.73G>C	p.E25Q	23:123885735-123885735	1
15	COSM108084128	XIAP	soft tissue,blood vessel,angiosarcoma,NS	c.73G>C	p.E25Q	23:123885735-123885735	1
16	COSM91383022	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.983G>A	p.W328*	11:32416508-32416508	1
17	COSM148593299	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.983G>A	p.W328*	11:32416508-32416508	1
18	COSM100781781	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.347G>A	p.W116*	11:32416508-32416508	1
19	COSM149739973	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.983G>A	p.W328*	11:32416508-32416508	1
20	COSM130518667	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.314+1069G>A	p.?	11:32416508-32416508	1
21	COSM113485009	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.983G>A	p.W328*	11:32416508-32416508	1
22	COSM111539054	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.950+1069G>A	p.?	11:32416508-32416508	1
23	COSM147426307	WT1	soft tissue,blood vessel,angiosarcoma,NS	c.950+1069G>A	p.?	11:32416508-32416508	1
24	COSM149814991	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1073G>A	p.W358*	16:2060767-2060767	1
25	COSM151514404	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.4510C>T	p.R1504W	16:2085245-2085245	1
26	COSM150365953	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1073G>A	p.W358*	16:2060767-2060767	1
27	COSM151378978	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
28	COSM151755621	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
29	COSM150324884	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1073G>A	p.W358*	16:2060767-2060767	1
30	COSM150315618	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.4384C>T	p.R1462W	16:2085245-2085245	1
31	COSM102634843	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
32	COSM148983289	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.4387C>T	p.R1463W	16:2085245-2085245	1
33	COSM101196039	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2347C>G	p.H783D	16:2074338-2074338	1
34	COSM136629025	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1106G>A	p.W369*	16:2060767-2060767	1
35	COSM87041278	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1073G>A	p.W358*	16:2060767-2060767	1
36	COSM148996186	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
37	COSM150586941	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
38	COSM147712334	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
39	COSM110114858	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.962G>A	p.W321*	16:2060767-2060767	1
40	COSM136619132	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.4417C>T	p.R1473W	16:2085245-2085245	1
41	COSM90415849	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1073G>A	p.W358*	16:2060767-2060767	1
42	COSM151518304	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1073G>A	p.W358*	16:2060767-2060767	1
43	COSM110120269	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2383C>G	p.H795D	16:2074338-2074338	1
44	COSM149803740	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.4453C>T	p.R1485W	16:2085245-2085245	1
45	COSM150369517	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
46	COSM150584116	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.1073G>A	p.W358*	16:2060767-2060767	1
47	COSM110105462	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.4276C>T	p.R1426W	16:2085245-2085245	1
48	COSM90421077	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1
49	COSM151371641	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.4579C>T	p.R1527W	16:2085245-2085245	1
50	COSM151519993	TSC2	soft tissue,blood vessel,angiosarcoma,NS	c.2494C>G	p.H832D	16:2074338-2074338	1